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Needle biopsy of bone and marrow in metabolic and infiltrative disease of bone.
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Stabilization of the midface with a cranium-to-alveolus bone graft.
The cranium-to-alveolus bone graft is an alternate method of reconstructing the posterior and lateral midfacial pillars where local reconstruction is not possible.
Ultrastructural findings supporting the angioblastic nature of the so-called adamantinoma of the tibia.
Electron microscopy of a case of adamantinoma of the tibia shows features which support a mesenchymal angioblastic origin rather than epithelial. Comparison is made between tissue from this tumour and a squamous cell carcinoma of the femur arising in chronic osteomyelitis. In adamantinoma no desmosomes are found between tumour cells and their cytoplasmic ultrastructure shows features of mesenchymal cell type including evidence of pinocytic activity and bundles of filaments resembling hyperplastic endothelial cells. The stroma shows features similar to fibrous dysplasia of bone with fibroblasts, histiocytes and fibrolipoblastic lipid-laden mesenchymal cells. It is condluded that adamantinoma of the tibia should be considered to be an angioblastic tumour of bone.
Osteodystrophia fibrosa in horses at pasture in Queensland: field and laboratory observations.
Horses grazing manily Cenchrus ciliaris and/or Panicum maximum var. trichoglume pastures on over 30 properties in southern central Queensland developed lesions of osteodystrophia fibrosa. Horses on individual properties in coastal Queensland grazing Setaria anceps, Brachiaria mutica or Pennisetum clandestinum also developed the disease. Ill-thrift, lameness, and fibrous swellings of nasal bones, maxillae and mandibles were observed. Calcium and phosphorus levels of pasture were normal but all the above pasture species contained oxalates which were suspected of causing the disease.
Letter: Aetiology of chronic renal failure and renal osteodystrophy.
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An R201H activating mutation of the GNAS1 (Gsalpha) gene in a corticotroph pituitary adenoma.
In the pituitary gland, activating mutations of the GNAS1 (Gsalpha) gene at Gln227 have been identified in adrenocorticotrophin secreting, growth hormone secreting, and prolactin secreting adenomas. To date, mutations at the codon encoding R201, typically underlying the McCune-Albright syndrome and isolated fibrous dysplasia of bone, have been demonstrated only in growth hormone secreting pituitary adenomas. In this study, a polymerase chain reaction amplified target sequence in exon 8 of the GNAS1 gene was sequenced, identifying the first R201 mutation seen in an isolated basophilic adenoma which generated Cushing's disease in a child. This case adds Cushing's disease to the range of human diseases caused by R201 mutations of the GNAS1 gene.
G protein defects in signal transduction.
G proteins couple receptors for many hormones to effectors that regulate second messenger metabolism. Several endocrine disorders have been shown to be caused by either loss- or gain-of-function mutations in G proteins or G protein-coupled receptors. In pseudohypoparathyroidism type Ia (PHP Ia), there are generalized hormone resistance (parathyroid hormone [PTH], thyroid-stimulating hormone, gonadotropins) and associated abnormal physical features, Albright hereditary osteodystrophy. Subjects with PHP Ib are normal in appearance and show renal resistance to PTH. In McCune-Albright syndrome (MAS), subjects show autonomous endocrine hyperfunction associated with fibrous dysplasia of bone and skin hyperpigmentation. Germline loss-of-function mutations have been identified in the G(s)-alpha gene in PHP Ia, and recent evidence suggests that the G(s)-alpha gene is paternally imprinted in a tissue-specific manner. Abnormal imprinting of the G(s)-alpha gene may be the cause of PHP Ib. MAS, in contrast, is caused by gain-of-function missense mutations of the G(s)-alpha gene.
Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting.
The heterotrimeric G protein G(s) couples hormone receptors (as well as other receptors) to the effector enzyme adenylyl cyclase and is therefore required for hormone-stimulated intracellular cAMP generation. Receptors activate G(s) by promoting exchange of GTP for GDP on the G(s) alpha-subunit (G(s)alpha) while an intrinsic GTPase activity of G(s)alpha that hydrolyzes bound GTP to GDP leads to deactivation. Mutations of specific G(s)alpha residues (Arg(201) or Gln(227)) that are critical for the GTPase reaction lead to constitutive activation of G(s)-coupled signaling pathways, and such somatic mutations are found in endocrine tumors, fibrous dysplasia of bone, and the McCune-Albright syndrome. Conversely, heterozygous loss-of-function mutations may lead to Albright hereditary osteodystrophy (AHO), a disease characterized by short stature, obesity, brachydactyly, sc ossifications, and mental deficits. Similar mutations are also associated with progressive osseous heteroplasia. Interestingly, paternal transmission of GNAS1 mutations leads to the AHO phenotype alone (pseudopseudohypoparathyroidism), while maternal transmission leads to AHO plus resistance to several hormones (e.g., PTH, TSH) that activate G(s) in their target tissues (pseudohypoparathyroidism type IA). Studies in G(s)alpha knockout mice demonstrate that G(s)alpha is imprinted in a tissue-specific manner, being expressed primarily from the maternal allele in some tissues (e.g., renal proximal tubule, the major site of renal PTH action), while being biallelically expressed in most other tissues. Disrupting mutations in the maternal allele lead to loss of G(s)alpha expression in proximal tubules and therefore loss of PTH action in the kidney, while mutations in the paternal allele have little effect on G(s)alpha expression or PTH action. G(s)alpha has recently been shown to be also imprinted in human pituitary glands. The G(s)alpha gene GNAS1 (as well as its murine ortholog Gnas) has at least four alternative promoters and first exons, leading to the production of alternative gene products including G(s)alpha, XLalphas (a novel G(s)alpha isoform that is expressed only from the paternal allele), and NESP55 (a chromogranin-like protein that is expressed only from the maternal allele). A fourth alternative promoter and first exon (exon 1A) located approximately 2.5 kb upstream of the G(s)alpha promoter is normally methylated on the maternal allele and transcriptionally active on the paternal allele. In patients with isolated renal resistance to PTH (pseudohypoparathyroidism type IB), the exon 1A promoter region has a paternal-specific imprinting pattern on both alleles (unmethylated, transcriptionally active), suggesting that this region is critical for the tissue-specific imprinting of G(s)alpha. The GNAS1 imprinting defect in pseudohypoparathyroidism type IB is predicted to decrease G(s)alpha expression in renal proximal tubules. Studies in G(s)alpha knockout mice also demonstrate that this gene is critical in the regulation of lipid and glucose metabolism.
Orbitocranial asymmetry.
Eleven cases are chosen to illustrate the differential diagnosis of deforming lesions of the bony orbit and its vicinity, which cause unilateral proptosis or other cranio-facial disfigurement. Three distinct varieties of orbito-cranial neurofibromatosis are distinguished, and they are contrasted with other deforming lesions of childhood--unilateral craniosynostosis, chronic juvenile subdural hygroma of the temporal fossa and congenital facial hemihypertrophy. Adult lesions are represented by intrinisic tumours of the orbit and paranasal sinuses, and by the commonest two processes deforming the sphenoid bone, meningioma and osseous fibrous dysplasia.
Coexistent polyostotic fibrous dysplasia and eosinophilic granuloma of bone. A unique association.
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Diagnostic efficacy of three-dimensional images by helical CT for lesions in the maxillofacial region.
The purpose of this study was to evaluate the efficacy of three-dimensional (3-D) images produced with a helical CT for the diagnosis of lesions occurring in the maxillofacial region. Thirty-four patients, who had lesions in the maxillofacial region, were examined by plain radiography (intra and extraoral) and the helical CT. Further, 3-D images were reconstructed from the data provided by the helical CT using the volume rendering method. These images were compared with plain radiographic images and conventional two-dimensional (2-D) CT images in terms of the information they provided for diagnosis. Using the 3-D images for tumors, bone destruction, inner components, extent of the lesion,the relationship between the lesion and surrounding anatomical landmarks, and the roots of the adjacent teeth were observed in overall views. We conclude that 3-D images produced by helical CT may provide useful information for the diagnosis of lesions.
Repositioning of craniofacial tumorous bone after autoclaving.
Thirteen bone tumours that were invading the craniofacial skeleton were operated on by intracranial procedures. The resected tumorous bone was autoclaved and put back. Follow up of no less than one year included 122mTc scanning, computed tomography, radiography, bone biopsy and clinical examination. In every case, when rigidly fixed, most of the autoclaved bone was gradually revitalised by invading new and normal bone. We conclude that autoclaved bone will be replaced by normal bone, and that the present technique is justified for reconstruction of complicated structures or large areas of bone after operations for tumours invading the craniofacial skeleton.
[Pathogenesis of alimentary osteodystrophy].
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Illustrative disorders of ectopic skeletal morphogenesis: a childhood parallax for studies in gravitational and space biology.
Heterotopic ossification is a key feature of at least three distinct genetic disorders of osteogenesis in humans: fibrodysplasia ossificans progressiva, progressive osseous heteroplasia, and Albright's hereditary osteodystrophy. All three conditions are genetic disorders of childhood, but the pathobiology of osteogenic induction, the histopathology of osteogenesis, the anatomic distribution of heterotopic lesions, and the developmental patterns of disease progression differ among the three conditions. The phenotypic distinction of these disorders is critically important in counselling patients and families as well as in advancing research to define the molecular pathophysiology of heterotopic osteogenesis in these disabling genetic disorders. Genetic disorders of tissue modeling and morphogenesis provide an important parallax to disturbances of tissue re-modeling that are of paramount importance to gravitational and space biologists as humans begin to explore and live in environments beyond the planet on which they evolved. Disorders of osteogenesis are of particular concern to space biologists due to the dramatic changes in skeletal biology in altered gravitational fields.
NTP Toxicology and Carcinogenesis Studies of C.I. Acid Orange 3 (CAS No. 6373-74-6) in F344/N Rats and B6C3F1 Mice (Gavage Studies).
C.I. Acid Orange 3 is a dinitrodiphenylamine derivative used exclusively as a dye (up to 0.2%) in semipermanent hair coloring products. This study was one of a series on semipermanent hair dyes, which included HC Blue No. 1 (NTP TR 271), HC Blue No. 2 (NTP TR 293), HC Red No. 3 (NTP TR 281), and C.I. Disperse Blue 1 (NTP TR 299). Toxicology and carcinogenesis studies of C.I. Acid Orange 3 (90% pure, containing 10% water for short-term studies and containing 6%-8% water and 2%-4% acetone for 2-year studies) were conducted by administering the dye in corn oil by gavage to F344/N rats and B6C3F1 mice of each sex for 14 days, 13 weeks, or 2 years. Fourteen-Day and Thirteen-Week Studies: In the 14-day studies (at 94-1,500 mg/kg in rats and 62-1,000 mg/kg in mice), no compound-related deaths or body weight changes were observed and no adverse effects were observed at necropsy. In the 13-week studies (at 94-1,500 mg/kg in rats and 31-2,000 mg/kg in mice), compound-related kidney lesions were observed in rats and mice of each sex. These lesions included variable degrees of degeneration and necrosis of epithelial cells in the proximal convoluted tubules, regeneration of tubular epithelium, and granular casts in the tubules. In a few female rats of the highest dose group, necrosis of the renal papillae and suppurative inflammation were also observed. Mean body weights were generally comparable among groups of rats and mice. Mice receiving 2,000 mg/kg had body weights 11%-12% lower than those of vehicle controls. Five of 10 female rats that received the highest dose of 1,500 mg/kg died before the end of the study, but no compound-related deaths occurred in male rats or mice of either sex. Based on these results, 2-year studies of C.I. Acid Orange 3 were conducted by administering the dye by gavage in corn oil at 0, 375, or 750 mg/kg to groups of 50 F344/N rats of each sex, 5 days per week for 103 weeks. Groups of 50 male B6C3F1 mice were administered 0, 125, or 250 mg/kg C.I. Acid Orange 3 on the same schedule, and groups of 50 female B6C3F1 mice were administered 0, 250, or 500 mg/kg. These doses were selected on the basis of the nature and severity of the renal lesions in both species. Body Weights and Survival in the Two-Year Studies: Mean body weights of high dose rats were generally more than 10% lower than those of vehicle controls after week 52 for males and week 70 for females. Mean body weights forlow dose groups were comparable to those of vehicle controls. The survival of high dose male (after week 33) and female (after week 14) rats was lower (P<0.05) than that of vehicle controls and was attributed to nephrotoxicity (final survival-- male: vehicle control, 36/50; low dose, 30/50; high dose, 0/50; female: 43/50; 34/50; 7/50). Mean body weights of dosed male and female mice were lower than those of vehicle controls (high dose, 5%-11% after week 74; low dose, 7%-17% after week 48). Survival of both the low dose (after week 102) and high dose (after week 100) groups of male mice was lower than that of the vehicle controls (final survival: 38/50; 25/50; 26/50). Although survival was lower than usual, no notable differences in survival were observed between groups of female mice (final survival: 23/50; 23/50; 24/50). Nonneoplastic and Neoplastic Lesions in the Two-Year Studies: For both species, the kidney was the major target organ for C.I. Acid Orange 3. These findings are summarized in the accompanying table. The incidences of renal pelvic epithelial hyperplasia were increased in dosed rats of each sex. No renal neoplasms were observed in dosed male rats, but a tubular cell adenocarcinoma was observed in a vehicle control male rat. Six transitional cell carcinomas of the kidney were observed in high dose female rats; kidney transitional cell neoplasms have not been observed in 1,697 corn oil vehicle control female F344/N rats. Nonneoplastic lesions characteristic of secondary renal hyperparathyroidism or secondary to uremia also occurred in dosed rats. The lesions included parathyroid hyperplasia, fibrous dysplasia of boia also occurred in dosed rats. The lesions included parathyroid hyperplasia, fibrous dysplasia of bone, erosion and ulcers of the glandular stomach, and mineralization of the aorta and glandular stomach. Epithelial hyperplasia of the urinary bladder was observed in one low dose and three high dose female mice. A squamous cell carcinoma was seen in the urinary bladder of one low dose female mouse. Even though no squamous cell urinary bladder neoplasms have been observed in 1,665 corn oil vehicle control female B6C3F1 mice, this single neoplasm in a low dose animal was not considered to be related to the administration of C.I. Acid Orange 3. Genetic Toxicology: C.I. Acid Orange 3 was mutagenic with and without exogenous metabolic activation in Salmonella typhimurium strains TA97; TA98; and TA100; no mutagenicity was observed for strain TA1535. Audit: The data, documents, and pathology materials from the 2-year studies of C.I. Acid Orange 3 have been audited. The audit findings show that the conduct of the studies is documented adequately and support the data and results given in this Technical Report. Conclusions: Under the conditions of these 2-year gavage studies, there was no evidence of carcinogenic activity of C.I. Acid Orange 3 for male F344/N rats administered 375 mg/kg; because of a marked reduction in survival and no indication of carcinogenicity, the 750 mg/kg group was considered to be inadequate for assessment of carcinogenic activity. There was clear evidence of carcinogenic activity of C.I. Acid Orange 3 for female F344/N rats as shown by the occurrence of transitional cell carcinomas of the kidney in the 750 mg/kg group; this group had reduced survival and chemically related nonneoplastic lesions of the kidney. There was no evidence of carcinogenic activity of C.I. Acid Orange 3 for male B6C3F1 mice administered 125 or 250 mg/kg or for female B6C3F1 mice administered 250 or 500 mg/kg. Nonneoplastic lesions of the kidney were observed in both dose groups of both sexes of rats and mice. Synonyms: 2-anilino-5-(2,4-dinitroanilino)-benzenesulfonic acid, monosodium salt; 5[(2,4-dinitrophenol)amine]-2-(phenylamine)-benzenesulfonic acid, monosodium salt; C.I. 10385; Tetracid Light Yellow 2R
Osteoma, ossifying fibroma, and fibrous dysplasia of facial and cranial bones.
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[A new case of parathyroid osteosis; operation and cure].
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